Matsumura K, Campbell K P
Howard Hughes Medical Institute, University of Iowa College of Medicine, Iowa City 52242.
Neuromuscul Disord. 1993 Mar;3(2):109-18. doi: 10.1016/0960-8966(93)90002-2.
Dystrophin is a large cytoskeletal protein encoded by the Duchenne muscular dystrophy (DMD) gene. Dystrophin is associated with a large oligomeric complex of sarcolemmal glycoproteins, including the novel laminin-binding glycoprotein called dystroglycan, which provides a linkage to the extracellular matrix. In DMD, the absence of dystrophin leads to a drastic reduction in all of the dystrophin-associated proteins. In severe childhood autosomal recessive muscular dystrophy with DMD-like phenotype (SCARMD), a specific deficiency of the 50 kDa dystrophin-associated glycoprotein is found. Thus, the disruption/dysfunction of the dystrophin-glycoprotein complex due to the deficiency of one or more of the dystrophin-associated proteins is presumed to cause the disruption of the linkage between the subsarcolemmal cytoskeleton and the extracellular matrix. This may render muscle cells susceptible to necrosis in two forms of severe childhood muscular dystrophy, DMD and SCARMD.
肌营养不良蛋白是一种由杜氏肌营养不良症（DMD）基因编码的大型细胞骨架蛋白。肌营养不良蛋白与肌膜糖蛋白的大型寡聚复合物相关，包括一种名为肌营养不良聚糖的新型层粘连蛋白结合糖蛋白，它为细胞外基质提供了连接。在DMD中，肌营养不良蛋白的缺失导致所有与肌营养不良蛋白相关的蛋白质大幅减少。在具有DMD样表型的严重儿童常染色体隐性肌营养不良症（SCARMD）中，发现了一种50 kDa的与肌营养不良蛋白相关的糖蛋白的特异性缺乏。因此，由于一种或多种与肌营养不良蛋白相关的蛋白质缺乏导致的肌营养不良蛋白-糖蛋白复合物的破坏/功能障碍，被认为会导致肌膜下细胞骨架与细胞外基质之间的连接中断。这可能使肌肉细胞在两种严重的儿童肌营养不良症，即DMD和SCARMD中易发生坏死。
